Androgen insensitivity syndrome

Testis and epididymis
Development
Androgen insensitivity syndrome

Author: Turki Al-Hussain, M.D.

Topic Completed: 1 September 2012

Revised: 27 March 2019

Copyright: 2002-2018, PathologyOutlines.com, Inc.

PubMed Search: Androgen insensitivity syndrome [title]

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Table of Contents

Cite this page: Al-Hussain T. Androgen insensitivity syndrome. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/testisandrogeninsens.html. Accessed February 20th, 2020.

Definition / general

Either XY or XXY
Called testicular feminization if complete
Most frequent cause of male pseudohermaphroditism
Lack of androgen receptor due to mutations in gene on X chromosome

Clinical features

Phenotypic female, tall with well formed breasts, absent / scanty pubic and axillary hair, shallow vagina and lack of upper vagina because anti-Müllerian hormone (AMH) causes Müllerian duct regression
Patients also have bilateral cryptorchidism with intraabdominal, inguinal or labial testes; usually no Wolffian or Müllerian derivatives
Recommend gonadectomy by puberty since associated with germ cell tumors (30% by age 50)

Case reports

15 year old girl with complete androgen insensitivity with Sertoli cell tumor and intratubular germ cell neoplasia in separate gonads (J Pediatr Endocrinol Metab 2012;25:547)
16 year old girl with complete androgen insensitivity syndrome associated with bilateral Sertoli cell adenomas and paratesticular leiomyomas (J Pediatr Urol 2013;9:e31)
Young woman with associated seminoma (Mod Pathol 1993;6:89)

Gross description

Tanish brown testes with multiple white nodules of Sertoli cells and Wolffian / Müllerian duct cysts at lateral pole of testis

Microscopic (histologic) description

Small seminiferous tubules without lumina composed of Sertoli cells only, usually immature, with sparse spermatogonia, marked Leydig cell hyperplasia (often without Reinke crystals), ovarian type stroma; nodules are probably hamartomas of Sertoli cells

Microscopic (histologic) images

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Seminiferous tubules

Absence of lumens